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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD12
(Q397*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABHD12, LOC126863008
(R218Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance